MANSC domain-containing protein 1 (MANSC1)

MANSC domain-containing protein 1 (MANSC1) is a predicted membrane and Golgi apparatus-associated protein encoded by the MANSC1 gene[3][8][7][10][11]. It contains a well-conserved MANSC (motif at the N-terminus with seven cysteines) domain, which is thought to be involved in protein complex formation within various protease activators and inhibitors but its precise biological function is currently unknown[1][2][5]. Variants in this gene are associated with intellectual disability syndromes such as Temtamy syndrome and autosomal dominant intellectual developmental disorder 6[3]. MANSC1 is not known to be a receptor, enzyme, transporter, or transcription factor and does not appear to be a direct target of any therapeutic drugs as of 2025[3][7][8][10][11].

Other names

MANSC1MANSC domain-containing protein 1C12orf33